ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11635C>G (p.Leu3879Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003322204 SCV004026396 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing PP3, PM2_SUP, PP2

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